Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.
Verhoef
S
S
Department of Clinical Genetics, Erasmus University Hospital Rotterdam, The Netherlands.
Vrtel
R
R
Bakker
L
L
Stolte-Dijkstra
I
I
Nellist
M
M
Begeer
J H
JH
Zaremba
J
J
Jozwiak
S
S
Tempelaars
A M
AM
Lindhout
D
D
Halley
D J
DJ
van den Ouweland
A M
AM
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020690:GTPase-Activating Proteins; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D020690:GTPase-Activating Proteins; D011506:Proteins; D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D004247:DNA